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Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: chandler nj. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Free article. Review.
Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.
Hanson B, Paternoster B, Povarnitsyn N, Scotchman E, Chitty L, Chandler N. Hanson B, et al. Extracell Vesicles Circ Nucl Acids. 2023 Feb 22;4(1):3-26. doi: 10.20517/evcna.2022.44. eCollection 2023. Extracell Vesicles Circ Nucl Acids. 2023. PMID: 39698301 Free PMC article. Review.
Prenatal detection of copy number variants.
Wafik M, Pendlebury-Watt A, Price K, Tomlinson C, Fowler E, Chandler N, Holder-Espinasse M. Wafik M, et al. Best Pract Res Clin Obstet Gynaecol. 2024 Dec;97:102547. doi: 10.1016/j.bpobgyn.2024.102547. Epub 2024 Sep 7. Best Pract Res Clin Obstet Gynaecol. 2024. PMID: 39278051 Review.
The evolving genetic etiology of conotruncal anomalies.
Sacco A, Talker R, Sarkies L, Ashraf T, Chandler NJ, Pandya P, Jowett V, Hillman S. Sacco A, et al. Among authors: chandler nj. Prenat Diagn. 2024 Jun;44(6-7):815-820. doi: 10.1002/pd.6534. Epub 2024 Feb 16. Prenat Diagn. 2024. PMID: 38363003
27 results